Prevalence of Arm Tremor Associated With Dystonia (Arm-TAWD) in patients with Adult-onset Isolated Cervical Dystonia in an Irish population.
Objective: The aim of the study was to determine whether Arm-TWAD affects HrQoL in patients with adult-onset isolated cervical dystonia (AOIFD-CD). Background: TAWD is tremor…PKAN is associated with significant peripheral metabolic alterations in the Dominican Republic cohort
Objective: Applying segmental bioimpedance testing to assess peripheral metabolic alterations in PKAN. Background: PKAN is a rare autosomal recessive disorder with >50 different mutations in…Prevalence of Spread of Dystonia and its effect on health-related quality of life in an Irish population with adult-onset isolated cervical dystonia.
Objective: We aim to characterize clinical and demographic features and assess prevalence of spread of dystonia in relation to health-related quality of life in CD…Phenotypic analysis of subjects with homozygous and compound heterozygous PANK2 mutations in a single extended pedigree from the Dominican Republic (DR) PKAN cohort
Objective: Whole exome sequencing and genotypic screening of homozygous and heterozygous PANK2 mutations in the Dominican Republic. Background: PKAN affects 1 in 1,000,000 people worldwide,…The Dystonia Coalition Natural History Project: An Available Research Resource
Objective: The purpose of this collaborative, international effort is to provide an available resource containing clinical and video data along with biospecimens for dystonia research.…Comprehensive Screening of Genetic, Genomic, Mitochondrial, and Microbiome Associations with Phenotypic Measures in the Dominican Republic PKAN Cohort
Objective: Establish novel molecular predictors of phenotypic variation using screening of genomic, transcriptomic, mitochondrial, microbiome, and clinical features. Background: Pantothenate Kinase Associated Neurodegeneration (PKAN), also…Dystonia as a main clinical feature of AAMR with a novel GMPPA mutation:A case report
Objective: To extend the spectrum of clinical phenotype in the alacrima, achalasia and mental retardation syndrome(AAMR) by reporting a case. Background: AAMR is a newly…Structural network fingerprints for GPI-DBS in dystonia
Objective: Here, we investigate whether patients who respond to GPi-DBS present different brain global and local network organization and structural MRI fingerprints as derived from…Neuromuscular electrical stimulation for the treatment of jaw-closing dystonia
Objective: To measure whether neuromuscular electrical stimulation (NMES) increases jaw-opening distance and improves quality-of-life in jaw-closing dystonia patients. Background: An index case with progressive supranuclear…The Dutch Yips Study
Objective: To investigate the prevalence of the Yips in a well-defined group of golfers and to determine potential risk factors. Background: The Yips is a…
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